Individual #00021220

Reference -
Gender F
Geographic origin Elis
Geographic origin Achaea
Population Greek
Consanguinity no
Remarks -
Panel size 1
Diseases OVCA
Owner name Despoina Kalfakakou


Phenotypes

Ovarian Cancer (OVCA)   Add phenotype for this disease

AscendingPhenotype ID     

Age of onset     

Phenotype details     

Inheritance     

OvCa FH     

Subtype     

Owner     
0000013453 47y - - Yes - Despoina Kalfakakou



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000356 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou



Variants

14 entries on 1 page. Showing entries 1 - 14.
Legend  

Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     

Gene     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
2 Parent #2 ?/? g.47606139A>G - EPCAM_000010 rs730882126 - Germline - - - - Despoina Kalfakakou EPCAM - NM_002354.2:c.603A>G r.(=) p.(=)
3 Parent #2 ?/? g.10076517C>T - FANCD2_000022 - - Germline - - - - Despoina Kalfakakou FANCD2 - NM_001018115.1:c.377+35C>T, NM_033084.3:c.377+35C>T r.(=) p.(=)
3 Parent #2 -/- g.37055947G>A - MLH1_000033 rs35908749 - Germline - - - - Despoina Kalfakakou MLH1 - NM_000249.3:c.702G>A, NM_001167617.1:c.408G>A, NM_001167618.1:c.-22G>A, NM_001167619.1:c.-22G>A, NM_001258271.1:c.702G>A, NM_001258273.1:c.-22G>A, NM_001258274.1:c.-22G>A r.(=) p.(=)
7 Parent #2 ?/? g.116415036A>T - MET_000015 rs1357266763 - Germline - - - - Despoina Kalfakakou MET - NM_000245.2:c.3130A>T, NM_001127500.1:c.3184A>T r.(?) p.(Ser1044Cys), p.(Ser1062Cys)
8 Parent #2 ?/? g.145737701C>T - RECQL4_000002 rs34666647 - Germline - - - - Despoina Kalfakakou RECQL4 - NM_004260.3:c.3063G>A - p.?
10 Parent #2 ./. g.123032498G>C - chr10_000011 - - - - - - - Despoina Kalfakakou - - - -
11 Parent #2 ./. g.89011098T>A - chr11_000007 - - - - - - - Despoina Kalfakakou - - - -
12 Parent #2 ?/? g.121426790G>A - HNF1A_000004 - - Germline - - - - Despoina Kalfakakou HNF1A - NM_000545.5:c.481G>A r.(?) p.(Ala161Thr)
13 Parent #2 +/+ g.32913007_32913017del - BRCA2_000282 rs863224827 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.4515_4525del r.(?) p.(Phe1506Thrfs*4)
13 Parent #2 -/- g.32972280G>A - BRCA2_000016 rs11571830 - Germline - - - - Despoina Kalfakakou BRCA2 - NM_000059.3:c.9649-19G>A r.(=) p.(=)
13 Parent #2 ?/? g.103504677T>G - ERCC5_000033 - - Germline - - - - Despoina Kalfakakou ERCC5 - NM_000123.3:c.264+34T>G r.(=) p.(=)
14 Parent #2 ?/? g.45658429C>T - FANCM_000029 - - Germline - - - - Despoina Kalfakakou FANCM - NM_020937.2:c.5204C>T r.(?) p.(Ser1735Leu)
16 Parent #2 ?/? g.50785483T>A - CYLD_000011 - - Germline - - - - Despoina Kalfakakou CYLD - NM_001042355.1:c.505-32T>A, NM_001042412.1:c.505-32T>A, NM_015247.2:c.505-32T>A r.(=) p.(=)
17 Parent #2 -/- g.59926634A>T - BRIP1_000018 rs200050729 - Germline - - - - Despoina Kalfakakou BRIP1 - NM_032043.2:c.380-17T>A r.(=) p.(=)
Legend